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A genomic association study revealing subphenotypes of childhood steroid-sensitive nephrotic syndrome in a larger genomic sequencing cohort

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Genes & Diseases 2024年第4期11卷 400-410页

作者： Han Chan Fenfen Ni Bo Zhao Huimin Jiang Juanjuan Ding Li Wang Xiaowen Wang Jingjing Cui shipin Feng Xiaojie Gao Xueying Yang Huan Chi Hao Lee Xuelan Chen Xiaoqin Li Jia Jiao Daoqi Wu Gaofu Zhang Mo Wang Yupeng Cun Xiongzhong Ruan Haiping Yang Qiu Li Department of Nephrology Children's Hospital of Chongqing Medical UniversityNational Clinical Research Center for Child Health and DisordersMinistry of Education Key Laboratory of Child Development and DisordersChongqing Key Laboratory of PediatricsChongqing 400014China Department of Nephrology Shenzhen Children's HospitalShenzhenGuangdong 518034China Department of Nephrology Kunming Children's HospitalKunming Medical UniversityKunmingYunnan 650228China Department of Nephrology Wuhan Children's HospitalTongji Medical College of Huazhong University of Science and TechnologyWuhanHubei 430015China Department of Nephrology Chengdu Women and Children Central HospitalChengduSichuan 610073China Pediatric Research Institute Ministry of Education Key Laboratory of Child Development and DisordersNational Clinical Research Center for Child Health and DisordersChina International Science and Technology Cooperation Base of Child Development and Critical DisordersChongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory DisordersChildren's Hospital of Chongqing Medical UniversityChongqing 400014China Department of Nephrology John Moorhead Research LaboratoryUniversity College London Medical SchoolRoyal Free CampusUniversity College LondonLondon NW32PFUnited Kingdom

Dissecting the genetic components that contribute to the two main subphenotypes of steroid-sensitive nephrotic syndrome(ssNs)using genome-wide association studies(GWAs)strategy is important for understanding the *** conducted a multicenter cohort study(360 patients and 1835 controls)combined with a GWAs strategy to identify susceptibility var-iants associated with the following two subphenotypes of ssNs:steroid-sensitive nephrotic syn-drome without relapse(ssNswR,181 patients)and steroid-dependent/frequent relapse nephrotic syndrome(sDNs/FRNs,179 patients).The distribution of two single-nucleotide poly-morphisms(sNPs)in ANKRD36 and ALPG was significant between ssNsWR and healthy controls,and that of two sNPs in GAD1 and HLA-DQA1 was significant between sDNs/FRNs and healthy ***,rs1047989 in HLA-DQA1 was a candidate locus for sDNs/FRNs but not for *** significant sNPs were observed between ssNsWR and sDNs/***,chromosome 2:171713702 in GAD1 was associated with a greater steroid dose(>0.75 mg/kg/d)upon relapse to first remission in patients with sDNs/FRNs(odds ratio=3.14;95%confidence interval,0.97-9.87;P=0.034).rs117014418 in APOL4 was significantly associated with a decrease in eGFR of greater than 20%compared with the baseline in sDNs/FRNs patients(P=0.0001).Protein-protein intersection network construction suggested that HLA-DQA1 and HLA-DQB1 function together through ***,ssNsWR belongs to non-HLA region-dependent nephropathy,and the HLA-DQA/DQB region is likely strongly associated with dis-ease relapse,especially in sDNs/*** study provides a novel approach for the GWAs strategy of ssNs and contributes to our understanding of the pathological mechanisms of ssNsWRandsDNs/FRNs.

关键词： Frequentrelapse Genome-wide association study Human leukocyte antigen region steroid-sensitive nephrotic syndrome

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Thermoregulation,incubator humidity,and skincare practices in appropriate for gestational age ultra-low birth weight infants:need for more evidence

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World Journal of Pediatrics 2024年第7期20卷 643-652页

作者： Umesh Mishra Deanne August Karen Walker Pranav R.Jani Mark Tracy Faculty of Medicine and Health University of SydneySydneyAustralia Department of Neonatology Westmead HospitalWestmeadNSWAustralia Grantley stable Neonatal Unit Royal Brisbane and Women’s HospitalBrisbaneAustralia school of Nursing Midwifery and Social WorkUniversity of QueenslandBrisbaneAustralia Department of Newborn Care Royal Prince Alfred HospitalCamperdownAustralia

Background Although not universal,active care is being offered to infants weighing<500 g at birth,referred to as ultra-low birth weight(ULBW)infants appropriate for gestational *** infants have the greatest risk of dy... 详细信息

Background Although not universal,active care is being offered to infants weighings ultra-low birth weight(ULBW)infants appropriate for gestational *** infants have the greatest risk of dying or developing major *** infants face challenges related to fluid and heat loss as well as skin injury in the initial days of life from extreme anatomical and physiological immaturity of the *** there is an emerging literature on the outcomes of ULBW infants,there is a paucity of evidence to inform practice guidelines for delivering optimal care to this cohort of *** sources A comprehensive review of the literature was performed using the PubMed and Embase *** keywords included“thermoregulation or body temperature regulation”,“incubator humidity”,“skin care”,“infant,extremely low birth weight”and“ultra-low birth weight infants”.Results Evidences for thermoregulation,incubator humidity,and skincare practices are available for preterm infants weighingspecifically for ULBW *** on thermoregulation,incubator humidity,or skincare practices had a small sample size and did not include a sub-group analysis for ULBW *** practice recommendations in ULBW infants are adopted from research in very and/or extremely low birth weight *** This narrative review focuses on challenges in thermoregulation,incubator humidity,and skincare practices in ULBW infants,highlights current research gaps and suggests potential developments for informing practices for improving health outcomes in ULBW infants.

关键词： Incubator humidity Neonatal intensive care unit skincare Thermoregulation Ultra-low birth weight

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Loculated pericardial hematoma diagnosed with point-of-care ultrasound

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World Journal of Emergency Medicine 2024年第3期15卷 241-242页

作者： Joaquín Valle Alonso Esther Montoro Leandro Noblia Emergency Department Royal Bournemouth HospitalBournemouth 14450UK Emergency Department Hospital Santa LuciaCartagena 30202Spain

Pericardial hematoma is a rare but potentially lifethreatening consequence following cardiac surgery that requires prompt recognition and *** can present with symptoms such as chest pain,dyspnea,tachycardia,and hypotension,which may mimic other post-operative *** pericardial hematoma compressing the atria might be difficult to *** and hematoma are more common in patients receiving early anticoagulant therapy.A focused cardiac ultrasound (Fo CUs) plays a pivotal role in the diagnosis,revealing the presence of pericardial effusion and signs of cardiac *** aim of this report was to provide a prompt diagnosis of loculated pericardial hematoma via Fo CUs in the emergency department (ED).

关键词： hematoma diagnosis cardiac

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Etiology and management of urethral calculi:A systematic review of contemporary series

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Asian Journal of Urology 2024年第1期11卷 10-18页

作者： Andrew Morton Arsalan Tariq Nigel Dunglison Rachel Esler Matthew J.Roberts Faculty of Medicine The University of QueenslandBrisbaneQueenslandAustralia Department of Urology Ipswich HospitalQueenslandAustralia Department of Urology Royal Brisbane and Women's HospitalQueenslandAustralia The University of Queensland Centre for Clinical Research HerstonAustralia

Objective:To conduct a systematic literature review on urethral calculi in a contemporary cohort describing etiology,investigation,and management ***:A systematic search of MEDLINE and Cochrane Central Register of Controlled Trials(CENTRAL)databases was ***,including case reports and case series on urethral calculi published between January 2000 and December 2019,were ***-text manuscripts were reviewed for clinical parameters including symptomatology,etiology,medical history,investigations,treatment,and *** were collated and analyzed with univariate ***:seventy-four publications met inclusion criteria,reporting on 95 *** symptoms(41.1%),pain(40.0%),and acute urinary retention(32.6%)were common presenting *** calculi were most often initially investigated using plain X-ray(63.2%),with almost all radio-opaque(98.3%).Urethral calculi were frequently associated with coexistent bladder or upper urinary tract calculi(16.8%)and underlying urethral pathology(53.7%)including diverticulum(33.7%)or stricture(13.7%).Urethral calculi were most commonly managed with external urethrolithotomy(31.6%),retrograde manipulation(22.1%),and endoscopic in situ lithotripsy(17.9%).Conclusion:This unique systematic review of urethral calculi provided a summary of clinical features and treatment trends with a suggested treatment *** in contemporary urological practice should be according to calculus size,shape,anatomical location,and presence of urethral pathology.

关键词： Urinary calculi Urethra Urethral calculi Management algorithm

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Treatment with intravenous alteplase in ischaemic stroke patients with onset time between 4.5 and 24 hours(HOPE):protocol for a randomised,controlled,multicentre study

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stroke & Vascular Neurology 2024年第3期9卷 318-323,I0274-I0282页

作者： Zhongyu Luo Ying Zhou Yaode He shenqiang Yan Zhicai Chen Xuting Zhang Yi Chen Lu-sha Tong Wansi Zhong Haitao Hu Kemeng Zhang Jiansheng Yang Bruce C V Campbell Min Lou Department of Neurology Zhejiang University School of Medicine Second Affiliated HospitalHangzhouZhejiangChina Department of Medicine and Neurology Melbourne Brain Centre at Royal Melbourne HospitalParkvilleVictoriaAustralia

Background While intravenous thrombolysis is recommended for patients who had an acute ischaemic stroke(AIs)within 4.5hours of symptom onset,there are few randomised trials investigating the benefits of thrombolysis beyond this therapeutic *** To determine whether patients who had an AIs selected with the presence of potentially salvageable tissue on CT perfusion at 4.5–24hours after stroke onset(for stroke with unknown onset time,the midpoint of the time last known to be well and symptom recognition time;for wake-up stroke,the midpoint of the time last known to be well or sleep onset and wake up time)will benefit from intravenous *** HOPE is a prospective,multicentre,randomised,open-label blinded endpoint trial with the stage of phase *** treatment allocation employs 1:1 *** treatment arm under investigation is alteplase with standard therapy,the control arm is standard *** imaging criteria include ischaemic core volume≤70mL,penumbra≥10mL and mismatch≥20%.study outcomes The primary outcome is non-disabled functional outcome(assessed as modified Rankin scale score of 0–1 at 90 days).Discussion HOPE is the first trial to investigate whether intravenous thrombolysis with alteplase offers benefits in patients who had an AIs presenting within 4.5–24hours,which has the potential to extend time window and expand eligible population for thrombolysis therapy.

关键词： patients intravenous centre

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Clinical applications of stem cell-derived exosomes

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signal Transduction and Targeted Therapy 2024年第2期9卷 621-651页

作者： Fei Tan Xuran Li Zhao Wang Jiaojiao Li Khawar shahzad Jialin Zheng Department of ORL-HNs Shanghai Fourth People’s Hospitaland School of MedicineTongji UniversityShanghaiChina Plasma Medicine and surgical Implants Center Tongji UniversityShanghaiChina The royal College of surgeons in Ireland DublinIreland The royal College of surgeons of England LondonUK Center for Translational Neurodegeneration and Regenerative Therapy Tongji Hospital affiliated to Tongji University School of MedicineShanghaiChina shanghai Frontiers science Center of Nanocatalytic Medicine Tongji UniversityShanghaiChina

Although stem cell-based therapy has demonstrated considerable potential to manage certain diseases more successfully than conventional surgery,it nevertheless comes with inescapable drawbacks that might limit its clinical *** to stem cells,stem cell-derived exosomes possess numerous advantages,such as non-immunogenicity,non-infusion toxicity,easy access,effortless preservation,and freedom from tumorigenic potential and ethical *** can inherit similar therapeutic effects from their parental cells such as embryonic stem cells and adult stem cells through vertical delivery of their pluripotency or *** a thorough search and meticulous dissection of relevant literature from the last five years,we present this comprehensive,up-to-date,specialty-specific and disease-oriented review to highlight the surgical application and potential of stem cell-derived *** derived from stem cells(e.g.,embryonic,induced pluripotent,hematopoietic,mesenchymal,neural,and endothelial stem cells)are capable of treating numerous diseases encountered in orthopedic surgery,neurosurgery,plastic surgery,general surgery,cardiothoracic surgery,urology,head and neck surgery,ophthalmology,and obstetrics and *** diverse therapeutic effects of stem cells-derived exosomes are a hierarchical translation through tissue-specific responses,and cell-specific molecular signaling *** this review,we highlight stem cell-derived exosomes as a viable and potent alternative to stem cell-based therapy in managing various surgical *** recommend that future research combines wisdoms from surgeons,nanomedicine practitioners,and stem cell researchers in this relevant and intriguing research area.

关键词： viable stem capable

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A novel saliva-based miRNA profile to diagnose and predict oral cancer

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International Journal of Oral science 2024年第1期16卷 97-109页

作者： Jaikrishna Balakittnen Chameera Ekanayake Weeramange Daniel F.Wallace Pascal H.G.Duijf Alexandre s.Cristino Gunter Hartel Roberto A.Barrero Touraj Taheri Liz Kenny sarju Vasani Martin Batstone Omar Breik Chamindie Punyadeera saliva&Liquid Biopsy Translational Laboratory Griffith Institute for Drug DiscoveryGriffith UniversityNathanQLDAustralia Department of Medical Laboratory sciences Faculty of Allied Health SciencesUniversity of JaffnaJaffnaSri Lanka Menzies Health Institute Griffith UniversityGold CoastQLDAustralia school of Biomedical sciences Faculty of HealthQueensland University of TechnologyBrisbaneQLDAustralia Centre for Cancer Biology Clinical and Health SciencesUniversity of South Australia&SA PathologyAdelaideSAAustralia Institute of Clinical Medicine Faculty of MedicineUniversity of OsloOsloNorway Department of Medical Genetics Oslo University HospitalOsloNorway Griffith Institute for Drug Discovery Griffith UniversityNathanQLDAustralia QIMR Berghofer Medical Research Institute Statistics UnitBrisbaneQLDAustralia school of Public Health The University of QueenslandBrisbaneQLDAustralia school of Nursing Queensland University of TechnologyBrisbaneQLDAustralia eResearch Research InfrastructureAcademic DivisionQueensland University of TechnologyBrisbaneQLDAustralia Department of Anatomical Pathology Royal Brisbane and Women’s HospitalHerstonQLDAustralia Faculty of Medicine The University of QueenslandBrisbaneQLDAustralia royal Brisbane and Women’s hospital Cancer Care ServicesHerstonQLDAustralia Department of Otolaryngology Royal Brisbane and Women’s HospitalHerstonQLDAustralia Department of Oral and Maxillofacial surgery Royal Brisbane and Women’s HospitalHerstonQLDAustralia

Oral cancer (OC) is the most common form of head and neck cancer. Despite the high incidence and unfavourable patient outcomes, currently, there are no biomarkers for the early detection of OC. This study aims to discover, develop, and validate a novel saliva-based microRNA signature for early diagnosis and prediction of OC risk in oral potentially malignant disorders (OPMD).The Cancer Genome Atlas (TCGA) miRNA sequencing data and small RNA sequencing data of saliva samples were used to discover differentially expressed miRNAs. Identified miRNAs were validated in saliva samples of OC (n=50), OPMD (n=52), and controls(n=60) using quantitative real-time PCR. Eight differentially expressed miRNAs (miR-7-5p, miR-10b-5p, miR-182-5p, miR-215-5p,miR-431-5p, miR-486-3p, miR-3614-5p, and miR-4707-3p) were identified in the discovery phase and were validated. The efficiency of our eight-miRNA signature to discriminate OC and controls was:area under curve (AUC):0.954, sensitivity:86%, specificity:90%,positive predictive value (PPV):87.8%and negative predictive value (NPV):88.5%whereas between OC and OPMD was:AUC:0.911,sensitivity:90%, specificity:82.7%, PPV:74.2%and NPV:89.6%. We have developed a risk probability score to predict the presence or risk of OC in OPMD patients. We established a salivary miRNA signature that can aid in diagnosing and predicting OC,revolutionising the management of patients with OPMD. Together, our results shed new light on the management of OC by salivary miRNAs to the clinical utility of using miRNAs derived from saliva samples.

关键词： specificity salivary diagnosis

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Global trend of nondrug and nonsedativehypnotic treatment forinsomnia: a bibliometric study

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Journal of Traditional Chinese Medicine 2024年第3期44卷 595-608页

作者： LEI Hanzhou XU Guixing WEI Zepeng ZHAO Ling LIANG Fanrong Acupuncture and Tuina school Chengdu University of Traditional Chinese MedicineChengdu 610075China Department of Haematology Royal North Shore HospitalSydney2065Australia

OBJECTIVE: To present a bibliometric analysis of global scientific publications on the nondrug and nonsedative hypnotic treatment of insomnia with regard to influential institutions, publications, countries, research hotspots,trends, and frontiers. METHODs: A literature review was conducted by searching the Web of science Core Collection(Wo sCC) and China National Knowledge Infrastructure(CNKI) databases to identify all publications related to the nondrug and nonsedative hypnotic treatment of insomnia from 2000 to 2021. Eligible publications were reviewed, including annual publication increments, citation analyses, international collaborations, and keyword analyses. The data were analysed using Cite space(vers5.8.R3, 6.1.R2 and 6.1.6, College of Computing and Informatics, Philadelphia, PA, UsA) and virtualized by knowledge maps. REsULTs:In total, 9832 publications were included in this analysis. The results from the WosCC showed that the United states of America(Count = 2268, 40.33%), stanford University(Count = 141, 2.51%), and the United states Department of Health and Human services were the leading country, institute, and funding agency regarding the number of publications, respectively. “Cognitive-behavioural therapy” was the most popular research topic generated from the cocited reference. The most frequently co-occurring keywords were insomnia, cognitive behavioural therapy, disorder, depression, quality of life, Meta-analysis, older adult, sleep, prevalence and efficacy, while keywords including clinical practice guideline, guideline, and Tai Chi remained popular after 2021. Circadian rhythm was the strongest research frontier for 2000-2021. In China, Chengdu University of Traditional Chinese Medicine(Count = 69, 4.79%) was the most productive institute in this field. The most frequently co-occurring keywords from Chinese literature were sleep disorder, sleep quality, acupuncture and moxibustion, Parkinson's disease, transcranial magnetic stimulation, health

关键词： hypnotics and sedatives cognitive behavioral therapy complementary therapies bibliometrics Citespace visualization analysis scientometrics

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The risk of prostate cancer on incidental finding of an avid prostate uptake on 2-deoxy-2-[^(18)F]fluoro-D-glucose positron emission tomography/computed tomography for non-prostate cancer-related pathology:A single centre retrospective study

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Asian Journal of Urology 2024年第1期11卷 33-41页

作者： Anthony Franklin Troy Gianduzzo Boon Kua David Wong Louise McEwan James Walters Rachel Esler Matthew J.Roberts Geoff Coughlina John W.Yaxley Department of Urology The Wesley HospitalBrisbaneQLDAustralia Wesley Medical Research BrisbaneQLDAustralia school of Medicine The University of QueenslandBrisbaneQLDAustralia Department of Radiology Wesley Medical ImagingBrisbaneQLDAustralia Department of Urology Royal Brisbane and Women's HospitalBrisbaneQLDAustralia

Objective:To review the risk of prostate cancer(PCa)in men with incidentally reported increased intraprostatic uptake at 2-deoxy-2-[18F]fluoro-d-glucose positron emission tomography/computed tomography(18F-FDG PET/CT)ordered at Department of Urology,The Wesley hospital,Brisbane,QLD,Australia for non-PCa related ***:Retrospective analysis of consecutive men between August 2014 and August 2019 presenting to a single institution for 18F-FDG PET/CT for non-prostate related conditions was *** were classified as benign,indeterminate,or malignant depending of the results of prostate-specific antigen(PsA),PsA velocity,biopsy histopathology,and three-Tesla(3 T)multiparametric MRI(mpMRI)Prostate Imaging Reporting and Data system score,or gallium-68-prostate-specific membrane antigen(68Ga-PsMA)PET/CT ***:Three percent(273/9122)of men demonstrated 18F-FDG avidity within the ***-five percent(231/273)were further investigated,including with PsA tests(227/231,98.3%),3 T mpMRI(68/231,29.4%),68Ga-PsMA PET/CT(33/231,14.3%),and prostate biopsy(57/231,24.7%).Results were considered benign in 130/231(56.3%),indeterminate in 31/231(13.4%),and malignant in 70/231(30.3%).PCa was identified in 51/57(89.5%)of the men who proceeded to biopsy,including 26/27(96.3%)men with Prostate Imaging Reporting and Data system scores 4-5 mpMRI and six men with a positive 68Ga-PsMA PET/*** most common Gleason score on biopsy was greater than or equal to 4+5(14/51,27.5%).68Ga-PsMA PET/CT was concordant with the 18F-FDG findings in 26/33(78.8%).All 13 men with a positive concordant 18F-FDG,3 T mpMRI,and 68Ga-PsMA PET/CT had PCa on *** was no statistically significant difference in the 18F-FDG maximum standardized uptake value between the benign or malignant groups(5.7 vs.6.1;p=0.580).Conclusion:In this study,after an incidental finding of an avid intraprostatic lesion on 18F-FDG PET/CT,70 of the 231 cases(30.3%;0.8%of the entire cohort)had results c

关键词： Prostatecancer Positionemission tomography Multiparametric magneticresonance imaging Prostatebiopsy

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Early anticoagulation in patients with stroke and atrial fibrillation is associated with fewer ischaemic lesions at 1 month: the ATTUNE study

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stroke & Vascular Neurology 2024年第1期9卷 30-37,I0034页

作者： Angelos sharobeam Longting Lin Christina Lam Carlos Garcia-Esperon Yash Gawarikar Ronak Patel Matthew Lee-Archer Andrew Wong Michael Roizman Amanda Gilligan Andrew Lee Kee Meng Tan susan Day Christopher Levi stephen M Davis Mark Parsons Bernard Yan Melbourne Brain Centre at royal Melbourne hospital ParkvilleVictoriaAustralia University of New south Wales south Western sydney Clinical school LiverpoolNew South WalesAustralia Department of Neurology John Hunter HospitalNewcastleNew South WalesAustralia Department of Neurology Calvary Public HospitalCanberraAustralian Capital TerritoryAustralia Department of Neurology Northern Hospital EppingEppingVictoriaAustralia Department of Neurology Royal Brisbane and Women's HospitalHerstonQueenslandAustralia The University of Queensland school of Medicine HerstonQueenslandAustralia Neurosciences Clinical Institute Epworth HealthcareRichmondVirginiaAustralia Department of Neurology Austin HealthUniversity of MelbourneHeidelbergVictoriaAustralia Flinders University College of Medicine and Public Health AdelaideSouth AustraliaAustralia Department of Neurology Gold Coast University HospitalSouthportQueenslandAustralia The University of sydney Northern Clinical school St LeonardsNew South WalesAustralia Department of Neurology and Neurophysiology Liverpool HospitalLiverpoolNew South WalesAustralia

Background The optimal time to commence anticoagulation in patients with atrial fibrillation(AF)after ischaemic stroke or transient ischaemic attack(TIA)is unclear,with guidelines differing in recommendations.A limitation of previous studies is the focus on clinically overt stroke,rather than radiologically obvious diffusion-weighted imaging ischaemic *** aimed to quantify silent ischaemic lesions and haemorrhages on MRI at 1month in patients commenced on early(s)vs late(≥4days)*** hypothesised that there would be fewer ischaemic lesions and more haemorrhages in the early anticoagulant group at 1-month *** A prospective multicentre,observational cohort study was performed at 11 Australian stroke *** and MRI data were collected at baseline and follow-up,with blinded imaging assessment performed by two *** of commencement of anticoagulation was at the discretion of the treating stroke *** We recruited 276 patients of whom 208 met the eligibility *** average age was 74.2 years(sD±10.63),and 79(38%)patients were *** National Institute of Health stroke scale score was 5(IQR 1–12).Median baseline ischaemic lesion volume was 5mL(IQR 2–17).There were a greater number of new ischaemic lesions on follow-up MRI in patients commenced on anticoagulation≥4days after index event(17%vs 8%,p=0.04),but no difference in haemorrhage rates(22%vs 32%,p=0.10).Baseline ischaemic lesion volume of≤5mL was less likely to have a new haemorrhage at 1month(p=0.02).There was no difference in haemorrhage rates in patients with an initial ischaemic lesion volume of>5mL,regardless of anticoagulation *** Commencing anticoagulations after stroke or TIA is associated with fewer ischaemic lesions at 1month in AF *** is no increased rate of haemorrhage with early *** results suggest that early anticoagulation after mild-to-moderate acute ischaemic stroke associated w

关键词： patients lesions ischaemic

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